Variant position: 1595 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2156 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human SSPDLKKCIKSPVTSDWSDY RPDSDSEQPYKTSSDDPNDS-G
Mouse SSLNFKKHHRSPGTLDWSDY GSDSESGYPCKASSNSHNDDS
Bovine SPLNFKSGLRRSGTSDWSDY RQNSENEPSYKASSNGPSDSD
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 2156 Oxygen-regulated protein 1
Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.
Bowne S.J.; Daiger S.P.; Hims M.M.; Sohocki M.M.; Malone K.A.; McKie A.B.; Heckenlively J.R.; Birch D.G.; Inglehearn C.F.; Bhattacharya S.S.; Bird A.; Sullivan L.S.;
Hum. Mol. Genet. 8:2121-2128(1999)
Cited for: VARIANTS RP1 ASN-663 AND PRO-1808; VARIANT GLN-1595;
RP1 protein truncating mutations predominate at the RP1 adRP locus.
Payne A.; Vithana E.; Khaliq S.; Hameed A.; Deller J.; Abu-Safieh L.; Kermani S.; Leroy B.P.; Mehdi S.Q.; Moore A.T.; Bird A.C.; Bhattacharya S.S.;
Invest. Ophthalmol. Vis. Sci. 41:4069-4073(2000)
Cited for: VARIANTS RP1 ILE-373; ASN-663; ASN-900 AND ASN-2113; VARIANTS HIS-872; TYR-985; GLN-1595; THR-1670; PRO-1691 AND SER-1793;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.